Study

The NIHR BioResource Rare Diseases BRIDGE consortium sequencing projects

Study ID Alternative Stable ID Type
EGAS00001001012 Other

Study Description

The NIHR BioResource Rare Diseases BRIDGE consortium is a collaboration between 13 Rare Disease projects that aim to discover the genetic sequence variants underlying unresolved inherited disorders and to improve identification of already identified high penetrance variants. BRIDGE projects cover a variety of rare disease research areas including Cardiovascular, Infection and Immunity and Neuroscience. The consortium aims to sequence 8,000 samples across the different projects by 2017.

Study Datasets 4 datasets.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001002656
Whole exome sequencing BAM files and whole genome sequencing CRAM files for 722 individuals from the NIHR-BioResource Rare Diseases Consortium (SPEED project) with inherited retinal disease.
Illumina HiSeq 2000 767
EGAD00001002730
SPEED - childhood dystonia KMT2B dataset
Illumina HiSeq 2000 5
EGAD00001004088
Multiple primary tumors (MPT) affect a substantial proportion of cancer survivors and may result from various causes including inherited predisposition. Currently, germline genetic testing of MPT cases for cancer predisposition gene (CPG) variants is mostly targeted by tumor type. We ascertained pre-assessed MPT cases from genetics centers (defined as ≥2 primaries by age 60 years or ≥3 by 70) and performed whole genome sequencing (WGS) on 460 individuals from 440 families. Despite previous ... (Show More)
Illumina HiSeq 2000 453
EGAD00001004089
SRNS unknown
Illumina HiSeq 2000 4

Who archives the data?

There are no publications available